| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.3457706A>C | CA502810385 | TGIF1 | c.525A>C (p.Gly175=) c.585A>C (p.Gly195=) c.972A>C (p.Gly324=) c.627A>C (p.Gly209=) c.594A>C (p.Gly198=) | |
| 18 | g.3457706A>G | CA502810386 | TGIF1 | c.525A>G (p.Gly175=) c.585A>G (p.Gly195=) c.972A>G (p.Gly324=) c.627A>G (p.Gly209=) c.594A>G (p.Gly198=) | |
| 18 | g.3457706A>T | CA502810387 | TGIF1 | c.525A>T (p.Gly175=) c.585A>T (p.Gly195=) c.972A>T (p.Gly324=) c.627A>T (p.Gly209=) c.594A>T (p.Gly198=) | gnomAD v4 |
| 18 | g.3457707C>A | CA401723817 | TGIF1 | c.526C>A (p.Gln176Lys) c.586C>A (p.Gln196Lys) c.973C>A (p.Gln325Lys) c.628C>A (p.Gln210Lys) c.595C>A (p.Gln199Lys) | |
| 18 | g.3457707C>G | CA401723818 | TGIF1 | c.526C>G (p.Gln176Glu) c.586C>G (p.Gln196Glu) c.973C>G (p.Gln325Glu) c.628C>G (p.Gln210Glu) c.595C>G (p.Gln199Glu) | |
| 18 | g.3457707C>T | CA401723819 | TGIF1 | c.526C>T (p.Gln176Ter) c.586C>T (p.Gln196Ter) c.973C>T (p.Gln325Ter) c.628C>T (p.Gln210Ter) c.595C>T (p.Gln199Ter) | |
| 18 | g.3457708A= | CA2281035646 | TGIF1 | c.527A= (p.Gln176=) c.587A= (p.Gln196=) c.974A= (p.Gln325=) c.629A= (p.Gln210=) c.596A= (p.Gln199=) | |
| 18 | g.3457708A>C | CA401723820 | TGIF1 | c.527A>C (p.Gln176Pro) c.587A>C (p.Gln196Pro) c.974A>C (p.Gln325Pro) c.629A>C (p.Gln210Pro) c.596A>C (p.Gln199Pro) | |
| 18 | g.3457708A>G | CA8875987 | TGIF1 | c.527A>G (p.Gln176Arg) c.587A>G (p.Gln196Arg) c.974A>G (p.Gln325Arg) c.629A>G (p.Gln210Arg) c.596A>G (p.Gln199Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457708A>T | CA401723821 | TGIF1 | c.527A>T (p.Gln176Leu) c.587A>T (p.Gln196Leu) c.974A>T (p.Gln325Leu) c.629A>T (p.Gln210Leu) c.596A>T (p.Gln199Leu) | |
| 18 | g.3457709A>C | CA401723822 | TGIF1 | c.528A>C (p.Gln176His) c.588A>C (p.Gln196His) c.975A>C (p.Gln325His) c.630A>C (p.Gln210His) c.597A>C (p.Gln199His) | |
| 18 | g.3457709A>G | CA502810388 | TGIF1 | c.528A>G (p.Gln176=) c.588A>G (p.Gln196=) c.975A>G (p.Gln325=) c.630A>G (p.Gln210=) c.597A>G (p.Gln199=) | |
| 18 | g.3457709A>T | CA401723823 | TGIF1 | c.528A>T (p.Gln176His) c.588A>T (p.Gln196His) c.975A>T (p.Gln325His) c.630A>T (p.Gln210His) c.597A>T (p.Gln199His) | |
| 18 | g.3457710A= | CA2281035647 | TGIF1 | c.529A= (p.Asn177=) c.589A= (p.Asn197=) c.976A= (p.Asn326=) c.631A= (p.Asn211=) c.598A= (p.Asn200=) | |
| 18 | g.3457710A>C | CA401723824 | TGIF1 | c.529A>C (p.Asn177His) c.589A>C (p.Asn197His) c.976A>C (p.Asn326His) c.631A>C (p.Asn211His) c.598A>C (p.Asn200His) | |
| 18 | g.3457710A>G | CA401723825 | TGIF1 | c.529A>G (p.Asn177Asp) c.589A>G (p.Asn197Asp) c.976A>G (p.Asn326Asp) c.631A>G (p.Asn211Asp) c.598A>G (p.Asn200Asp) | |
| 18 | g.3457710A>T | CA8875988 | TGIF1 | c.529A>T (p.Asn177Tyr) c.589A>T (p.Asn197Tyr) c.976A>T (p.Asn326Tyr) c.631A>T (p.Asn211Tyr) c.598A>T (p.Asn200Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457711A>C | CA401723828 | TGIF1 | c.530A>C (p.Asn177Thr) c.590A>C (p.Asn197Thr) c.977A>C (p.Asn326Thr) c.632A>C (p.Asn211Thr) c.599A>C (p.Asn200Thr) | |
| 18 | g.3457711A>G | CA401723826 | TGIF1 | c.530A>G (p.Asn177Ser) c.590A>G (p.Asn197Ser) c.977A>G (p.Asn326Ser) c.632A>G (p.Asn211Ser) c.599A>G (p.Asn200Ser) | dbSNP |
| 18 | g.3457711A>T | CA401723827 | TGIF1 | c.530A>T (p.Asn177Ile) c.590A>T (p.Asn197Ile) c.977A>T (p.Asn326Ile) c.632A>T (p.Asn211Ile) c.599A>T (p.Asn200Ile) | |
| 18 | g.3457714_3457715del | CA2640853261 | TGIF1 | c.533_534del (p.Thr178ArgfsTer23) c.593_594del (p.Thr198ArgfsTer23) c.980_981del (p.Thr327ArgfsTer23) c.635_636del (p.Thr212ArgfsTer23) c.602_603del (p.Thr201ArgfsTer23) | gnomAD v4 |
| 18 | g.3457712C>A | CA401723829 | TGIF1 | c.531C>A (p.Asn177Lys) c.591C>A (p.Asn197Lys) c.978C>A (p.Asn326Lys) c.633C>A (p.Asn211Lys) c.600C>A (p.Asn200Lys) | |
| 18 | g.3457712C>G | CA401723830 | TGIF1 | c.531C>G (p.Asn177Lys) c.591C>G (p.Asn197Lys) c.978C>G (p.Asn326Lys) c.633C>G (p.Asn211Lys) c.600C>G (p.Asn200Lys) | |
| 18 | g.3457712C>T | CA502810391 | TGIF1 | c.531C>T (p.Asn177=) c.591C>T (p.Asn197=) c.978C>T (p.Asn326=) c.633C>T (p.Asn211=) c.600C>T (p.Asn200=) | |
| 18 | g.3457713A>C | CA401723831 | TGIF1 | c.532A>C (p.Thr178Pro) c.592A>C (p.Thr198Pro) c.979A>C (p.Thr327Pro) c.634A>C (p.Thr212Pro) c.601A>C (p.Thr201Pro) | |
| 18 | g.3457713A>G | CA401723832 | TGIF1 | c.532A>G (p.Thr178Ala) c.592A>G (p.Thr198Ala) c.979A>G (p.Thr327Ala) c.634A>G (p.Thr212Ala) c.601A>G (p.Thr201Ala) | |
| 18 | g.3457713A>T | CA401723833 | TGIF1 | c.532A>T (p.Thr178Ser) c.592A>T (p.Thr198Ser) c.979A>T (p.Thr327Ser) c.634A>T (p.Thr212Ser) c.601A>T (p.Thr201Ser) | |
| 18 | g.3457714C>A | CA401723834 | TGIF1 | c.533C>A (p.Thr178Lys) c.593C>A (p.Thr198Lys) c.980C>A (p.Thr327Lys) c.635C>A (p.Thr212Lys) c.602C>A (p.Thr201Lys) | |
| 18 | g.3457714C= | CA2281035648 | TGIF1 | c.533C= (p.Thr178=) c.593C= (p.Thr198=) c.980C= (p.Thr327=) c.635C= (p.Thr212=) c.602C= (p.Thr201=) | |
| 18 | g.3457714C>G | CA401723835 | TGIF1 | c.533C>G (p.Thr178Arg) c.593C>G (p.Thr198Arg) c.980C>G (p.Thr327Arg) c.635C>G (p.Thr212Arg) c.602C>G (p.Thr201Arg) | |
| 18 | g.3457714C>T | CA401723836 | TGIF1 | c.533C>T (p.Thr178Ile) c.593C>T (p.Thr198Ile) c.980C>T (p.Thr327Ile) c.635C>T (p.Thr212Ile) c.602C>T (p.Thr201Ile) | dbSNP |
| 18 | g.3457715A>C | CA502810392 | TGIF1 | c.534A>C (p.Thr178=) c.594A>C (p.Thr198=) c.981A>C (p.Thr327=) c.636A>C (p.Thr212=) c.603A>C (p.Thr201=) | gnomAD v4 |
| 18 | g.3457715A>G | CA502810393 | TGIF1 | c.534A>G (p.Thr178=) c.594A>G (p.Thr198=) c.981A>G (p.Thr327=) c.636A>G (p.Thr212=) c.603A>G (p.Thr201=) | |
| 18 | g.3457715A>T | CA502810394 | TGIF1 | c.534A>T (p.Thr178=) c.594A>T (p.Thr198=) c.981A>T (p.Thr327=) c.636A>T (p.Thr212=) c.603A>T (p.Thr201=) | |
| 18 | g.3457716G>A | CA401723837 | TGIF1 | c.535G>A (p.Asp179Asn) c.595G>A (p.Asp199Asn) c.982G>A (p.Asp328Asn) c.637G>A (p.Asp213Asn) c.604G>A (p.Asp202Asn) | gnomAD v4 |
| 18 | g.3457716G>C | CA401723838 | TGIF1 | c.535G>C (p.Asp179His) c.595G>C (p.Asp199His) c.982G>C (p.Asp328His) c.637G>C (p.Asp213His) c.604G>C (p.Asp202His) | |
| 18 | g.3457716G>T | CA401723839 | TGIF1 | c.535G>T (p.Asp179Tyr) c.595G>T (p.Asp199Tyr) c.982G>T (p.Asp328Tyr) c.637G>T (p.Asp213Tyr) c.604G>T (p.Asp202Tyr) | |
| 18 | g.3457717A= | CA2281035649 | TGIF1 | c.536A= (p.Asp179=) c.596A= (p.Asp199=) c.983A= (p.Asp328=) c.638A= (p.Asp213=) c.605A= (p.Asp202=) | |
| 18 | g.3457717A>C | CA401723841 | TGIF1 | c.536A>C (p.Asp179Ala) c.596A>C (p.Asp199Ala) c.983A>C (p.Asp328Ala) c.638A>C (p.Asp213Ala) c.605A>C (p.Asp202Ala) | |
| 18 | g.3457717A>G | CA401723840 | TGIF1 | c.536A>G (p.Asp179Gly) c.596A>G (p.Asp199Gly) c.983A>G (p.Asp328Gly) c.638A>G (p.Asp213Gly) c.605A>G (p.Asp202Gly) | |
| 18 | g.3457717A>T | CA8875989 | TGIF1 | c.536A>T (p.Asp179Val) c.596A>T (p.Asp199Val) c.983A>T (p.Asp328Val) c.638A>T (p.Asp213Val) c.605A>T (p.Asp202Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457718T>A | CA401723842 | TGIF1 | c.537T>A (p.Asp179Glu) c.597T>A (p.Asp199Glu) c.984T>A (p.Asp328Glu) c.639T>A (p.Asp213Glu) c.606T>A (p.Asp202Glu) | |
| 18 | g.3457718T>C | CA502810397 | TGIF1 | c.537T>C (p.Asp179=) c.597T>C (p.Asp199=) c.984T>C (p.Asp328=) c.639T>C (p.Asp213=) c.606T>C (p.Asp202=) | |
| 18 | g.3457718T>G | CA401723843 | TGIF1 | c.537T>G (p.Asp179Glu) c.597T>G (p.Asp199Glu) c.984T>G (p.Asp328Glu) c.639T>G (p.Asp213Glu) c.606T>G (p.Asp202Glu) | |
| 18 | g.3457719A>C | CA401723844 | TGIF1 | c.538A>C (p.Ile180Leu) c.598A>C (p.Ile200Leu) c.985A>C (p.Ile329Leu) c.640A>C (p.Ile214Leu) c.607A>C (p.Ile203Leu) | |
| 18 | g.3457719A>G | CA401723845 | TGIF1 | c.538A>G (p.Ile180Val) c.598A>G (p.Ile200Val) c.985A>G (p.Ile329Val) c.640A>G (p.Ile214Val) c.607A>G (p.Ile203Val) | gnomAD v4 |
| 18 | g.3457719A>T | CA401723846 | TGIF1 | c.538A>T (p.Ile180Leu) c.598A>T (p.Ile200Leu) c.985A>T (p.Ile329Leu) c.640A>T (p.Ile214Leu) c.607A>T (p.Ile203Leu) | |
| 18 | g.3457720T>A | CA401723847 | TGIF1 | c.539T>A (p.Ile180Lys) c.599T>A (p.Ile200Lys) c.986T>A (p.Ile329Lys) c.641T>A (p.Ile214Lys) c.608T>A (p.Ile203Lys) | |
| 18 | g.3457720T>C | CA8875990 | TGIF1 | c.539T>C (p.Ile180Thr) c.599T>C (p.Ile200Thr) c.986T>C (p.Ile329Thr) c.641T>C (p.Ile214Thr) c.608T>C (p.Ile203Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457720T>G | CA401723848 | TGIF1 | c.539T>G (p.Ile180Arg) c.599T>G (p.Ile200Arg) c.986T>G (p.Ile329Arg) c.641T>G (p.Ile214Arg) c.608T>G (p.Ile203Arg) | |
| 18 | g.3457720T= | CA2281035650 | TGIF1 | c.539T= (p.Ile180=) c.599T= (p.Ile200=) c.986T= (p.Ile329=) c.641T= (p.Ile214=) c.608T= (p.Ile203=) | |
| 18 | g.3457721A>C | CA502810401 | TGIF1 | c.540A>C (p.Ile180=) c.600A>C (p.Ile200=) c.987A>C (p.Ile329=) c.642A>C (p.Ile214=) c.609A>C (p.Ile203=) | |
| 18 | g.3457721A>G | CA401723849 | TGIF1 | c.540A>G (p.Ile180Met) c.600A>G (p.Ile200Met) c.987A>G (p.Ile329Met) c.642A>G (p.Ile214Met) c.609A>G (p.Ile203Met) | gnomAD v4 |
| 18 | g.3457721A>T | CA502810403 | TGIF1 | c.540A>T (p.Ile180=) c.600A>T (p.Ile200=) c.987A>T (p.Ile329=) c.642A>T (p.Ile214=) c.609A>T (p.Ile203=) | |
| 18 | g.3457722C>A | CA401723850 | TGIF1 | c.541C>A (p.Gln181Lys) c.601C>A (p.Gln201Lys) c.988C>A (p.Gln330Lys) c.643C>A (p.Gln215Lys) c.610C>A (p.Gln204Lys) | |
| 18 | g.3457722C>G | CA401723851 | TGIF1 | c.541C>G (p.Gln181Glu) c.601C>G (p.Gln201Glu) c.988C>G (p.Gln330Glu) c.643C>G (p.Gln215Glu) c.610C>G (p.Gln204Glu) | gnomAD v4 |
| 18 | g.3457722C>T | CA401723852 | TGIF1 | c.541C>T (p.Gln181Ter) c.601C>T (p.Gln201Ter) c.988C>T (p.Gln330Ter) c.643C>T (p.Gln215Ter) c.610C>T (p.Gln204Ter) | |
| 18 | g.3457723A= | CA2281035651 | TGIF1 | c.542A= (p.Gln181=) c.602A= (p.Gln201=) c.989A= (p.Gln330=) c.644A= (p.Gln215=) c.611A= (p.Gln204=) | |
| 18 | g.3457723A>C | CA401723854 | TGIF1 | c.542A>C (p.Gln181Pro) c.602A>C (p.Gln201Pro) c.989A>C (p.Gln330Pro) c.644A>C (p.Gln215Pro) c.611A>C (p.Gln204Pro) | |
| 18 | g.3457723A>G | CA295567328 | TGIF1 | c.542A>G (p.Gln181Arg) c.602A>G (p.Gln201Arg) c.989A>G (p.Gln330Arg) c.644A>G (p.Gln215Arg) c.611A>G (p.Gln204Arg) | dbSNP gnomAD v4 |
| 18 | g.3457723A>T | CA401723853 | TGIF1 | c.542A>T (p.Gln181Leu) c.602A>T (p.Gln201Leu) c.989A>T (p.Gln330Leu) c.644A>T (p.Gln215Leu) c.611A>T (p.Gln204Leu) | |
| 18 | g.3457724G>A | CA502810405 | TGIF1 | c.543G>A (p.Gln181=) c.603G>A (p.Gln201=) c.990G>A (p.Gln330=) c.645G>A (p.Gln215=) c.612G>A (p.Gln204=) | |
| 18 | g.3457724G>C | CA401723855 | TGIF1 | c.543G>C (p.Gln181His) c.603G>C (p.Gln201His) c.990G>C (p.Gln330His) c.645G>C (p.Gln215His) c.612G>C (p.Gln204His) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457724G= | CA2281035652 | TGIF1 | c.543G= (p.Gln181=) c.603G= (p.Gln201=) c.990G= (p.Gln330=) c.645G= (p.Gln215=) c.612G= (p.Gln204=) | |
| 18 | g.3457724G>T | CA401723856 | TGIF1 | c.543G>T (p.Gln181His) c.603G>T (p.Gln201His) c.990G>T (p.Gln330His) c.645G>T (p.Gln215His) c.612G>T (p.Gln204His) | |
| 18 | g.3457725C>A | CA401723857 | TGIF1 | c.544C>A (p.Gln182Lys) c.604C>A (p.Gln202Lys) c.991C>A (p.Gln331Lys) c.646C>A (p.Gln216Lys) c.613C>A (p.Gln205Lys) | |
| 18 | g.3457725C>G | CA401723858 | TGIF1 | c.544C>G (p.Gln182Glu) c.604C>G (p.Gln202Glu) c.991C>G (p.Gln331Glu) c.646C>G (p.Gln216Glu) c.613C>G (p.Gln205Glu) | |
| 18 | g.3457725C>T | CA401723859 | TGIF1 | c.544C>T (p.Gln182Ter) c.604C>T (p.Gln202Ter) c.991C>T (p.Gln331Ter) c.646C>T (p.Gln216Ter) c.613C>T (p.Gln205Ter) | |
| 18 | g.3457726A>C | CA401723860 | TGIF1 | c.545A>C (p.Gln182Pro) c.605A>C (p.Gln202Pro) c.992A>C (p.Gln331Pro) c.647A>C (p.Gln216Pro) c.614A>C (p.Gln205Pro) | |
| 18 | g.3457726A>G | CA401723861 | TGIF1 | c.545A>G (p.Gln182Arg) c.605A>G (p.Gln202Arg) c.992A>G (p.Gln331Arg) c.647A>G (p.Gln216Arg) c.614A>G (p.Gln205Arg) | |
| 18 | g.3457726A>T | CA401723862 | TGIF1 | c.545A>T (p.Gln182Leu) c.605A>T (p.Gln202Leu) c.992A>T (p.Gln331Leu) c.647A>T (p.Gln216Leu) c.614A>T (p.Gln205Leu) | |
| 18 | g.3457727G>A | CA502810410 | TGIF1 | c.546G>A (p.Gln182=) c.606G>A (p.Gln202=) c.993G>A (p.Gln331=) c.648G>A (p.Gln216=) c.615G>A (p.Gln205=) | gnomAD v4 |
| 18 | g.3457727G>C | CA401723863 | TGIF1 | c.546G>C (p.Gln182His) c.606G>C (p.Gln202His) c.993G>C (p.Gln331His) c.648G>C (p.Gln216His) c.615G>C (p.Gln205His) | |
| 18 | g.3457727G>T | CA401723864 | TGIF1 | c.546G>T (p.Gln182His) c.606G>T (p.Gln202His) c.993G>T (p.Gln331His) c.648G>T (p.Gln216His) c.615G>T (p.Gln205His) | |
| 18 | g.3457728A= | CA2281035653 | TGIF1 | c.547A= (p.Ile183=) c.607A= (p.Ile203=) c.994A= (p.Ile332=) c.649A= (p.Ile217=) c.616A= (p.Ile206=) | |
| 18 | g.3457728A>C | CA401723865 | TGIF1 | c.547A>C (p.Ile183Leu) c.607A>C (p.Ile203Leu) c.994A>C (p.Ile332Leu) c.649A>C (p.Ile217Leu) c.616A>C (p.Ile206Leu) | |
| 18 | g.3457728A>G | CA8875991 | TGIF1 | c.547A>G (p.Ile183Val) c.607A>G (p.Ile203Val) c.994A>G (p.Ile332Val) c.649A>G (p.Ile217Val) c.616A>G (p.Ile206Val) | dbSNP ExAC gnomAD v4 |
| 18 | g.3457728A>T | CA401723866 | TGIF1 | c.547A>T (p.Ile183Leu) c.607A>T (p.Ile203Leu) c.994A>T (p.Ile332Leu) c.649A>T (p.Ile217Leu) c.616A>T (p.Ile206Leu) | |
| 18 | g.3457729T>A | CA401723868 | TGIF1 | c.548T>A (p.Ile183Lys) c.608T>A (p.Ile203Lys) c.995T>A (p.Ile332Lys) c.650T>A (p.Ile217Lys) c.617T>A (p.Ile206Lys) | |
| 18 | g.3457729T>C | CA8875992 | TGIF1 | c.548T>C (p.Ile183Thr) c.608T>C (p.Ile203Thr) c.995T>C (p.Ile332Thr) c.650T>C (p.Ile217Thr) c.617T>C (p.Ile206Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457729T>G | CA401723867 | TGIF1 | c.548T>G (p.Ile183Arg) c.608T>G (p.Ile203Arg) c.995T>G (p.Ile332Arg) c.650T>G (p.Ile217Arg) c.617T>G (p.Ile206Arg) | |
| 18 | g.3457729T= | CA2281035654 | TGIF1 | c.548T= (p.Ile183=) c.608T= (p.Ile203=) c.995T= (p.Ile332=) c.650T= (p.Ile217=) c.617T= (p.Ile206=) | |
| 18 | g.3457730A= | CA2281035655 | TGIF1 | c.549A= (p.Ile183=) c.609A= (p.Ile203=) c.996A= (p.Ile332=) c.651A= (p.Ile217=) c.618A= (p.Ile206=) | |
| 18 | g.3457730A>C | CA502810415 | TGIF1 | c.549A>C (p.Ile183=) c.609A>C (p.Ile203=) c.996A>C (p.Ile332=) c.651A>C (p.Ile217=) c.618A>C (p.Ile206=) | |
| 18 | g.3457730A>G | CA8875993 | TGIF1 | c.549A>G (p.Ile183Met) c.609A>G (p.Ile203Met) c.996A>G (p.Ile332Met) c.651A>G (p.Ile217Met) c.618A>G (p.Ile206Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457730A>T | CA502810416 | TGIF1 | c.549A>T (p.Ile183=) c.609A>T (p.Ile203=) c.996A>T (p.Ile332=) c.651A>T (p.Ile217=) c.618A>T (p.Ile206=) | |
| 18 | g.3457730_3457732del | CA2810783807 | TGIF1 | c.549_551del (p.Ile183_Ala184delinsMet) c.609_611del (p.Ile203_Ala204delinsMet) c.996_998del (p.Ile332_Ala333delinsMet) c.651_653del (p.Ile217_Ala218delinsMet) c.618_620del (p.Ile206_Ala207delinsMet) | |
| 18 | g.3457731G>A | CA401723869 | TGIF1 | c.550G>A (p.Ala184Thr) c.610G>A (p.Ala204Thr) c.997G>A (p.Ala333Thr) c.652G>A (p.Ala218Thr) c.619G>A (p.Ala207Thr) | |
| 18 | g.3457731G>C | CA401723870 | TGIF1 | c.550G>C (p.Ala184Pro) c.610G>C (p.Ala204Pro) c.997G>C (p.Ala333Pro) c.652G>C (p.Ala218Pro) c.619G>C (p.Ala207Pro) | |
| 18 | g.3457731G>T | CA401723871 | TGIF1 | c.550G>T (p.Ala184Ser) c.610G>T (p.Ala204Ser) c.997G>T (p.Ala333Ser) c.652G>T (p.Ala218Ser) c.619G>T (p.Ala207Ser) | |
| 18 | g.3457732C>A | CA401723872 | TGIF1 | c.551C>A (p.Ala184Glu) c.611C>A (p.Ala204Glu) c.998C>A (p.Ala333Glu) c.653C>A (p.Ala218Glu) c.620C>A (p.Ala207Glu) | |
| 18 | g.3457732C= | CA2281035656 | TGIF1 | c.551C= (p.Ala184=) c.611C= (p.Ala204=) c.998C= (p.Ala333=) c.653C= (p.Ala218=) c.620C= (p.Ala207=) | |
| 18 | g.3457732C>G | CA401723873 | TGIF1 | c.551C>G (p.Ala184Gly) c.611C>G (p.Ala204Gly) c.998C>G (p.Ala333Gly) c.653C>G (p.Ala218Gly) c.620C>G (p.Ala207Gly) | |
| 18 | g.3457732C>T | CA8875994 | TGIF1 | c.551C>T (p.Ala184Val) c.611C>T (p.Ala204Val) c.998C>T (p.Ala333Val) c.653C>T (p.Ala218Val) c.620C>T (p.Ala207Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457733G>A | CA8875995 | TGIF1 | c.552G>A (p.Ala184=) c.612G>A (p.Ala204=) c.999G>A (p.Ala333=) c.654G>A (p.Ala218=) c.621G>A (p.Ala207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457733G>C | CA8875996 | TGIF1 | c.552G>C (p.Ala184=) c.612G>C (p.Ala204=) c.999G>C (p.Ala333=) c.654G>C (p.Ala218=) c.621G>C (p.Ala207=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457733G= | CA2281035657 | TGIF1 | c.552G= (p.Ala184=) c.612G= (p.Ala204=) c.999G= (p.Ala333=) c.654G= (p.Ala218=) c.621G= (p.Ala207=) | |
| 18 | g.3457733G>T | CA502810420 | TGIF1 | c.552G>T (p.Ala184=) c.612G>T (p.Ala204=) c.999G>T (p.Ala333=) c.654G>T (p.Ala218=) c.621G>T (p.Ala207=) | gnomAD v4 |
| 18 | g.3457734G>A | CA8875997 | TGIF1 | c.553G>A (p.Ala185Thr) c.613G>A (p.Ala205Thr) c.1000G>A (p.Ala334Thr) c.655G>A (p.Ala219Thr) c.622G>A (p.Ala208Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457734G>C | CA401723874 | TGIF1 | c.553G>C (p.Ala185Pro) c.613G>C (p.Ala205Pro) c.1000G>C (p.Ala334Pro) c.655G>C (p.Ala219Pro) c.622G>C (p.Ala208Pro) | |
| 18 | g.3457734G= | CA2281035658 | TGIF1 | c.553G= (p.Ala185=) c.613G= (p.Ala205=) c.1000G= (p.Ala334=) c.655G= (p.Ala219=) c.622G= (p.Ala208=) | |
| 18 | g.3457734G>T | CA401723875 | TGIF1 | c.553G>T (p.Ala185Ser) c.613G>T (p.Ala205Ser) c.1000G>T (p.Ala334Ser) c.655G>T (p.Ala219Ser) c.622G>T (p.Ala208Ser) | |
| 18 | g.3457735C>A | CA401723878 | TGIF1 | c.554C>A (p.Ala185Asp) c.614C>A (p.Ala205Asp) c.1001C>A (p.Ala334Asp) c.656C>A (p.Ala219Asp) c.623C>A (p.Ala208Asp) | |
| 18 | g.3457735C>G | CA401723877 | TGIF1 | c.554C>G (p.Ala185Gly) c.614C>G (p.Ala205Gly) c.1001C>G (p.Ala334Gly) c.656C>G (p.Ala219Gly) c.623C>G (p.Ala208Gly) | |
| 18 | g.3457735C>T | CA401723876 | TGIF1 | c.554C>T (p.Ala185Val) c.614C>T (p.Ala205Val) c.1001C>T (p.Ala334Val) c.656C>T (p.Ala219Val) c.623C>T (p.Ala208Val) | |
| 18 | g.3457736C>A | CA502810424 | TGIF1 | c.555C>A (p.Ala185=) c.615C>A (p.Ala205=) c.1002C>A (p.Ala334=) c.657C>A (p.Ala219=) c.624C>A (p.Ala208=) | |
| 18 | g.3457736C>G | CA502810425 | TGIF1 | c.555C>G (p.Ala185=) c.615C>G (p.Ala205=) c.1002C>G (p.Ala334=) c.657C>G (p.Ala219=) c.624C>G (p.Ala208=) | gnomAD v4 |
| 18 | g.3457736C>T | CA502810426 | TGIF1 | c.555C>T (p.Ala185=) c.615C>T (p.Ala205=) c.1002C>T (p.Ala334=) c.657C>T (p.Ala219=) c.624C>T (p.Ala208=) | |
| 18 | g.3457737A>C | CA401723879 | TGIF1 | c.556A>C (p.Lys186Gln) c.616A>C (p.Lys206Gln) c.1003A>C (p.Lys335Gln) c.658A>C (p.Lys220Gln) c.625A>C (p.Lys209Gln) | |
| 18 | g.3457737A>G | CA401723881 | TGIF1 | c.556A>G (p.Lys186Glu) c.616A>G (p.Lys206Glu) c.1003A>G (p.Lys335Glu) c.658A>G (p.Lys220Glu) c.625A>G (p.Lys209Glu) | |
| 18 | g.3457737A>T | CA401723880 | TGIF1 | c.556A>T (p.Lys186Ter) c.616A>T (p.Lys206Ter) c.1003A>T (p.Lys335Ter) c.658A>T (p.Lys220Ter) c.625A>T (p.Lys209Ter) | |
| 18 | g.3457741dup | CA645599955 | TGIF1 | c.560dup (p.Asn187LysfsTer15) c.620dup (p.Asn207LysfsTer15) c.1007dup (p.Asn336LysfsTer15) c.662dup (p.Asn221LysfsTer15) c.629dup (p.Asn210LysfsTer15) | COSMIC COSMIC |
| 18 | g.3457741del | CA645599956 | TGIF1 | c.560del (p.Asn187ThrfsTer?) c.620del (p.Asn207ThrfsTer?) c.1007del (p.Asn336ThrfsTer?) c.662del (p.Asn221ThrfsTer?) c.629del (p.Asn210ThrfsTer?) | COSMIC COSMIC |
| 18 | g.3457738A>C | CA401723882 | TGIF1 | c.557A>C (p.Lys186Thr) c.617A>C (p.Lys206Thr) c.1004A>C (p.Lys335Thr) c.659A>C (p.Lys220Thr) c.626A>C (p.Lys209Thr) | |
| 18 | g.3457738A>G | CA401723884 | TGIF1 | c.557A>G (p.Lys186Arg) c.617A>G (p.Lys206Arg) c.1004A>G (p.Lys335Arg) c.659A>G (p.Lys220Arg) c.626A>G (p.Lys209Arg) | gnomAD v4 |
| 18 | g.3457738A>T | CA401723883 | TGIF1 | c.557A>T (p.Lys186Ile) c.617A>T (p.Lys206Ile) c.1004A>T (p.Lys335Ile) c.659A>T (p.Lys220Ile) c.626A>T (p.Lys209Ile) | |
| 18 | g.3457738_3457739insC | CA2810783808 | TGIF1 | c.557_558insC (p.Lys186AsnfsTer16) c.617_618insC (p.Lys206AsnfsTer16) c.1004_1005insC (p.Lys335AsnfsTer16) c.659_660insC (p.Lys220AsnfsTer16) c.626_627insC (p.Lys209AsnfsTer16) | |
| 18 | g.3457739A>C | CA401723885 | TGIF1 | c.558A>C (p.Lys186Asn) c.618A>C (p.Lys206Asn) c.1005A>C (p.Lys335Asn) c.660A>C (p.Lys220Asn) c.627A>C (p.Lys209Asn) | dbSNP |
| 18 | g.3457739A>G | CA502810428 | TGIF1 | c.558A>G (p.Lys186=) c.618A>G (p.Lys206=) c.1005A>G (p.Lys335=) c.660A>G (p.Lys220=) c.627A>G (p.Lys209=) | |
| 18 | g.3457739A>T | CA401723886 | TGIF1 | c.558A>T (p.Lys186Asn) c.618A>T (p.Lys206Asn) c.1005A>T (p.Lys335Asn) c.660A>T (p.Lys220Asn) c.627A>T (p.Lys209Asn) | |
| 18 | g.3457739_3457740insGC | CA2810783809 | TGIF1 | c.558_559insGC (p.Asn187AlafsTer?) c.618_619insGC (p.Asn207AlafsTer?) c.1005_1006insGC (p.Asn336AlafsTer?) c.660_661insGC (p.Asn221AlafsTer?) c.627_628insGC (p.Asn210AlafsTer?) | |
| 18 | g.3457740A>C | CA401723887 | TGIF1 | c.559A>C (p.Asn187His) c.619A>C (p.Asn207His) c.1006A>C (p.Asn336His) c.661A>C (p.Asn221His) c.628A>C (p.Asn210His) | |
| 18 | g.3457740A>G | CA401723889 | TGIF1 | c.559A>G (p.Asn187Asp) c.619A>G (p.Asn207Asp) c.1006A>G (p.Asn336Asp) c.661A>G (p.Asn221Asp) c.628A>G (p.Asn210Asp) | |
| 18 | g.3457740A>T | CA401723888 | TGIF1 | c.559A>T (p.Asn187Tyr) c.619A>T (p.Asn207Tyr) c.1006A>T (p.Asn336Tyr) c.661A>T (p.Asn221Tyr) c.628A>T (p.Asn210Tyr) | |
| 18 | g.3457741A= | CA2281035659 | TGIF1 | c.560A= (p.Asn187=) c.620A= (p.Asn207=) c.1007A= (p.Asn336=) c.662A= (p.Asn221=) c.629A= (p.Asn210=) | |
| 18 | g.3457741A>C | CA401723890 | TGIF1 | c.560A>C (p.Asn187Thr) c.620A>C (p.Asn207Thr) c.1007A>C (p.Asn336Thr) c.662A>C (p.Asn221Thr) c.629A>C (p.Asn210Thr) | |
| 18 | g.3457741A>G | CA8875998 | TGIF1 | c.560A>G (p.Asn187Ser) c.620A>G (p.Asn207Ser) c.1007A>G (p.Asn336Ser) c.662A>G (p.Asn221Ser) c.629A>G (p.Asn210Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457741A>T | CA401723891 | TGIF1 | c.560A>T (p.Asn187Ile) c.620A>T (p.Asn207Ile) c.1007A>T (p.Asn336Ile) c.662A>T (p.Asn221Ile) c.629A>T (p.Asn210Ile) | |
| 18 | g.3457742C>A | CA401723892 | TGIF1 | c.561C>A (p.Asn187Lys) c.621C>A (p.Asn207Lys) c.1008C>A (p.Asn336Lys) c.663C>A (p.Asn221Lys) c.630C>A (p.Asn210Lys) | dbSNP |
| 18 | g.3457742C= | CA2281035660 | TGIF1 | c.561C= (p.Asn187=) c.621C= (p.Asn207=) c.1008C= (p.Asn336=) c.663C= (p.Asn221=) c.630C= (p.Asn210=) | |
| 18 | g.3457742C>G | CA401723893 | TGIF1 | c.561C>G (p.Asn187Lys) c.621C>G (p.Asn207Lys) c.1008C>G (p.Asn336Lys) c.663C>G (p.Asn221Lys) c.630C>G (p.Asn210Lys) | |
| 18 | g.3457742C>T | CA502810431 | TGIF1 | c.561C>T (p.Asn187=) c.621C>T (p.Asn207=) c.1008C>T (p.Asn336=) c.663C>T (p.Asn221=) c.630C>T (p.Asn210=) | |
| 18 | g.3457743T>A | CA401723894 | TGIF1 | c.562T>A (p.Phe188Ile) c.622T>A (p.Phe208Ile) c.1009T>A (p.Phe337Ile) c.664T>A (p.Phe222Ile) c.631T>A (p.Phe211Ile) | |
| 18 | g.3457743T>C | CA401723895 | TGIF1 | c.562T>C (p.Phe188Leu) c.622T>C (p.Phe208Leu) c.1009T>C (p.Phe337Leu) c.664T>C (p.Phe222Leu) c.631T>C (p.Phe211Leu) | COSMIC COSMIC |
| 18 | g.3457743T>G | CA401723896 | TGIF1 | c.562T>G (p.Phe188Val) c.622T>G (p.Phe208Val) c.1009T>G (p.Phe337Val) c.664T>G (p.Phe222Val) c.631T>G (p.Phe211Val) | |
| 18 | g.3457744T>A | CA401723897 | TGIF1 | c.563T>A (p.Phe188Tyr) c.623T>A (p.Phe208Tyr) c.1010T>A (p.Phe337Tyr) c.665T>A (p.Phe222Tyr) c.632T>A (p.Phe211Tyr) | |
| 18 | g.3457744T>C | CA401723898 | TGIF1 | c.563T>C (p.Phe188Ser) c.623T>C (p.Phe208Ser) c.1010T>C (p.Phe337Ser) c.665T>C (p.Phe222Ser) c.632T>C (p.Phe211Ser) | |
| 18 | g.3457744T>G | CA401723899 | TGIF1 | c.563T>G (p.Phe188Cys) c.623T>G (p.Phe208Cys) c.1010T>G (p.Phe337Cys) c.665T>G (p.Phe222Cys) c.632T>G (p.Phe211Cys) | |
| 18 | g.3457745C>A | CA401723900 | TGIF1 | c.564C>A (p.Phe188Leu) c.624C>A (p.Phe208Leu) c.1011C>A (p.Phe337Leu) c.666C>A (p.Phe222Leu) c.633C>A (p.Phe211Leu) | gnomAD v4 |
| 18 | g.3457745C= | CA2281035661 | TGIF1 | c.564C= (p.Phe188=) c.624C= (p.Phe208=) c.1011C= (p.Phe337=) c.666C= (p.Phe222=) c.633C= (p.Phe211=) | |
| 18 | g.3457745C>G | CA8875999 | TGIF1 | c.564C>G (p.Phe188Leu) c.624C>G (p.Phe208Leu) c.1011C>G (p.Phe337Leu) c.666C>G (p.Phe222Leu) c.633C>G (p.Phe211Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457745C>T | CA502810434 | TGIF1 | c.564C>T (p.Phe188=) c.624C>T (p.Phe208=) c.1011C>T (p.Phe337=) c.666C>T (p.Phe222=) c.633C>T (p.Phe211=) | gnomAD v4 |
| 18 | g.3457746A>C | CA401723901 | TGIF1 | c.565A>C (p.Thr189Pro) c.625A>C (p.Thr209Pro) c.1012A>C (p.Thr338Pro) c.667A>C (p.Thr223Pro) c.634A>C (p.Thr212Pro) | |
| 18 | g.3457746A>G | CA401723902 | TGIF1 | c.565A>G (p.Thr189Ala) c.625A>G (p.Thr209Ala) c.1012A>G (p.Thr338Ala) c.667A>G (p.Thr223Ala) c.634A>G (p.Thr212Ala) | gnomAD v4 |
| 18 | g.3457746A>T | CA401723903 | TGIF1 | c.565A>T (p.Thr189Ser) c.625A>T (p.Thr209Ser) c.1012A>T (p.Thr338Ser) c.667A>T (p.Thr223Ser) c.634A>T (p.Thr212Ser) | |
| 18 | g.3457747C>A | CA401723906 | TGIF1 | c.566C>A (p.Thr189Lys) c.626C>A (p.Thr209Lys) c.1013C>A (p.Thr338Lys) c.668C>A (p.Thr223Lys) c.635C>A (p.Thr212Lys) | |
| 18 | g.3457747C>G | CA401723904 | TGIF1 | c.566C>G (p.Thr189Arg) c.626C>G (p.Thr209Arg) c.1013C>G (p.Thr338Arg) c.668C>G (p.Thr223Arg) c.635C>G (p.Thr212Arg) | |
| 18 | g.3457747C>T | CA401723905 | TGIF1 | c.566C>T (p.Thr189Ile) c.626C>T (p.Thr209Ile) c.1013C>T (p.Thr338Ile) c.668C>T (p.Thr223Ile) c.635C>T (p.Thr212Ile) | |
| 18 | g.3457748A= | CA2281035662 | TGIF1 | c.567A= (p.Thr189=) c.627A= (p.Thr209=) c.1014A= (p.Thr338=) c.669A= (p.Thr223=) c.636A= (p.Thr212=) | |
| 18 | g.3457748A>C | CA502810437 | TGIF1 | c.567A>C (p.Thr189=) c.627A>C (p.Thr209=) c.1014A>C (p.Thr338=) c.669A>C (p.Thr223=) c.636A>C (p.Thr212=) | gnomAD v4 |
| 18 | g.3457748A>G | CA502810438 | TGIF1 | c.567A>G (p.Thr189=) c.627A>G (p.Thr209=) c.1014A>G (p.Thr338=) c.669A>G (p.Thr223=) c.636A>G (p.Thr212=) | dbSNP gnomAD v4 |
| 18 | g.3457748A>T | CA502810439 | TGIF1 | c.567A>T (p.Thr189=) c.627A>T (p.Thr209=) c.1014A>T (p.Thr338=) c.669A>T (p.Thr223=) c.636A>T (p.Thr212=) | |
| 18 | g.3457749G>A | CA401723907 | TGIF1 | c.568G>A (p.Asp190Asn) c.628G>A (p.Asp210Asn) c.1015G>A (p.Asp339Asn) c.670G>A (p.Asp224Asn) c.637G>A (p.Asp213Asn) | |
| 18 | g.3457749G>C | CA401723908 | TGIF1 | c.568G>C (p.Asp190His) c.628G>C (p.Asp210His) c.1015G>C (p.Asp339His) c.670G>C (p.Asp224His) c.637G>C (p.Asp213His) | |
| 18 | g.3457749G>T | CA401723909 | TGIF1 | c.568G>T (p.Asp190Tyr) c.628G>T (p.Asp210Tyr) c.1015G>T (p.Asp339Tyr) c.670G>T (p.Asp224Tyr) c.637G>T (p.Asp213Tyr) | |
| 18 | g.3457750A= | CA2281035663 | TGIF1 | c.569A= (p.Asp190=) c.629A= (p.Asp210=) c.1016A= (p.Asp339=) c.671A= (p.Asp224=) c.638A= (p.Asp213=) | |
| 18 | g.3457750A>C | CA401723910 | TGIF1 | c.569A>C (p.Asp190Ala) c.629A>C (p.Asp210Ala) c.1016A>C (p.Asp339Ala) c.671A>C (p.Asp224Ala) c.638A>C (p.Asp213Ala) | |
| 18 | g.3457750A>G | CA401723911 | TGIF1 | c.569A>G (p.Asp190Gly) c.629A>G (p.Asp210Gly) c.1016A>G (p.Asp339Gly) c.671A>G (p.Asp224Gly) c.638A>G (p.Asp213Gly) | |
| 18 | g.3457750A>T | CA8876000 | TGIF1 | c.569A>T (p.Asp190Val) c.629A>T (p.Asp210Val) c.1016A>T (p.Asp339Val) c.671A>T (p.Asp224Val) c.638A>T (p.Asp213Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457751C>A | CA401723912 | TGIF1 | c.570C>A (p.Asp190Glu) c.630C>A (p.Asp210Glu) c.1017C>A (p.Asp339Glu) c.672C>A (p.Asp224Glu) c.639C>A (p.Asp213Glu) | |
| 18 | g.3457751C>G | CA401723913 | TGIF1 | c.570C>G (p.Asp190Glu) c.630C>G (p.Asp210Glu) c.1017C>G (p.Asp339Glu) c.672C>G (p.Asp224Glu) c.639C>G (p.Asp213Glu) | |
| 18 | g.3457751C>T | CA502810444 | TGIF1 | c.570C>T (p.Asp190=) c.630C>T (p.Asp210=) c.1017C>T (p.Asp339=) c.672C>T (p.Asp224=) c.639C>T (p.Asp213=) | |
| 18 | g.3457752A>C | CA401723914 | TGIF1 | c.571A>C (p.Thr191Pro) c.631A>C (p.Thr211Pro) c.1018A>C (p.Thr340Pro) c.673A>C (p.Thr225Pro) c.640A>C (p.Thr214Pro) | |
| 18 | g.3457752A>G | CA401723915 | TGIF1 | c.571A>G (p.Thr191Ala) c.631A>G (p.Thr211Ala) c.1018A>G (p.Thr340Ala) c.673A>G (p.Thr225Ala) c.640A>G (p.Thr214Ala) | |
| 18 | g.3457752A>T | CA401723916 | TGIF1 | c.571A>T (p.Thr191Ser) c.631A>T (p.Thr211Ser) c.1018A>T (p.Thr340Ser) c.673A>T (p.Thr225Ser) c.640A>T (p.Thr214Ser) | |
| 18 | g.3457753C>A | CA401723918 | TGIF1 | c.572C>A (p.Thr191Asn) c.632C>A (p.Thr211Asn) c.1019C>A (p.Thr340Asn) c.674C>A (p.Thr225Asn) c.641C>A (p.Thr214Asn) | |
| 18 | g.3457753C>G | CA401723919 | TGIF1 | c.572C>G (p.Thr191Ser) c.632C>G (p.Thr211Ser) c.1019C>G (p.Thr340Ser) c.674C>G (p.Thr225Ser) c.641C>G (p.Thr214Ser) | gnomAD v4 |
| 18 | g.3457753C>T | CA401723917 | TGIF1 | c.572C>T (p.Thr191Ile) c.632C>T (p.Thr211Ile) c.1019C>T (p.Thr340Ile) c.674C>T (p.Thr225Ile) c.641C>T (p.Thr214Ile) | dbSNP |
| 18 | g.3457754C>A | CA502810445 | TGIF1 | c.573C>A (p.Thr191=) c.633C>A (p.Thr211=) c.1020C>A (p.Thr340=) c.675C>A (p.Thr225=) c.642C>A (p.Thr214=) | |
| 18 | g.3457754C= | CA2281035664 | TGIF1 | c.573C= (p.Thr191=) c.633C= (p.Thr211=) c.1020C= (p.Thr340=) c.675C= (p.Thr225=) c.642C= (p.Thr214=) | |
| 18 | g.3457754C>G | CA502810446 | TGIF1 | c.573C>G (p.Thr191=) c.633C>G (p.Thr211=) c.1020C>G (p.Thr340=) c.675C>G (p.Thr225=) c.642C>G (p.Thr214=) | gnomAD v4 |
| 18 | g.3457754C>T | CA8876001 | TGIF1 | c.573C>T (p.Thr191=) c.633C>T (p.Thr211=) c.1020C>T (p.Thr340=) c.675C>T (p.Thr225=) c.642C>T (p.Thr214=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457755T>A | CA401723920 | TGIF1 | c.574T>A (p.Ser192Thr) c.634T>A (p.Ser212Thr) c.1021T>A (p.Ser341Thr) c.676T>A (p.Ser226Thr) c.643T>A (p.Ser215Thr) | |
| 18 | g.3457755T>C | CA401723921 | TGIF1 | c.574T>C (p.Ser192Pro) c.634T>C (p.Ser212Pro) c.1021T>C (p.Ser341Pro) c.676T>C (p.Ser226Pro) c.643T>C (p.Ser215Pro) | |
| 18 | g.3457755T>G | CA401723922 | TGIF1 | c.574T>G (p.Ser192Ala) c.634T>G (p.Ser212Ala) c.1021T>G (p.Ser341Ala) c.676T>G (p.Ser226Ala) c.643T>G (p.Ser215Ala) | COSMIC COSMIC |
| 18 | g.3457756C>A | CA401723925 | TGIF1 | c.575C>A (p.Ser192Tyr) c.635C>A (p.Ser212Tyr) c.1022C>A (p.Ser341Tyr) c.677C>A (p.Ser226Tyr) c.644C>A (p.Ser215Tyr) | |
| 18 | g.3457756C= | CA2281035665 | TGIF1 | c.575C= (p.Ser192=) c.635C= (p.Ser212=) c.1022C= (p.Ser341=) c.677C= (p.Ser226=) c.644C= (p.Ser215=) | |
| 18 | g.3457756C>G | CA401723924 | TGIF1 | c.575C>G (p.Ser192Cys) c.635C>G (p.Ser212Cys) c.1022C>G (p.Ser341Cys) c.677C>G (p.Ser226Cys) c.644C>G (p.Ser215Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457756C>T | CA401723923 | TGIF1 | c.575C>T (p.Ser192Phe) c.635C>T (p.Ser212Phe) c.1022C>T (p.Ser341Phe) c.677C>T (p.Ser226Phe) c.644C>T (p.Ser215Phe) | |
| 18 | g.3457757T>A | CA502810449 | TGIF1 | c.576T>A (p.Ser192=) c.636T>A (p.Ser212=) c.1023T>A (p.Ser341=) c.678T>A (p.Ser226=) c.645T>A (p.Ser215=) | |
| 18 | g.3457757T>C | CA502810450 | TGIF1 | c.576T>C (p.Ser192=) c.636T>C (p.Ser212=) c.1023T>C (p.Ser341=) c.678T>C (p.Ser226=) c.645T>C (p.Ser215=) | |
| 18 | g.3457757T>G | CA502810451 | TGIF1 | c.576T>G (p.Ser192=) c.636T>G (p.Ser212=) c.1023T>G (p.Ser341=) c.678T>G (p.Ser226=) c.645T>G (p.Ser215=) | |
| 18 | g.3457758C>A | CA401723926 | TGIF1 | c.577C>A (p.Leu193Ile) c.637C>A (p.Leu213Ile) c.1024C>A (p.Leu342Ile) c.679C>A (p.Leu227Ile) c.646C>A (p.Leu216Ile) | |
| 18 | g.3457758C>G | CA401723927 | TGIF1 | c.577C>G (p.Leu193Val) c.637C>G (p.Leu213Val) c.1024C>G (p.Leu342Val) c.679C>G (p.Leu227Val) c.646C>G (p.Leu216Val) | gnomAD v4 |
| 18 | g.3457758C>T | CA401723928 | TGIF1 | c.577C>T (p.Leu193Phe) c.637C>T (p.Leu213Phe) c.1024C>T (p.Leu342Phe) c.679C>T (p.Leu227Phe) c.646C>T (p.Leu216Phe) | |
| 18 | g.3457759T>A | CA401723929 | TGIF1 | c.578T>A (p.Leu193His) c.638T>A (p.Leu213His) c.1025T>A (p.Leu342His) c.680T>A (p.Leu227His) c.647T>A (p.Leu216His) | |
| 18 | g.3457759T>C | CA401723930 | TGIF1 | c.578T>C (p.Leu193Pro) c.638T>C (p.Leu213Pro) c.1025T>C (p.Leu342Pro) c.680T>C (p.Leu227Pro) c.647T>C (p.Leu216Pro) | |
| 18 | g.3457759T>G | CA401723931 | TGIF1 | c.578T>G (p.Leu193Arg) c.638T>G (p.Leu213Arg) c.1025T>G (p.Leu342Arg) c.680T>G (p.Leu227Arg) c.647T>G (p.Leu216Arg) | |
| 18 | g.3457760C>A | CA502810454 | TGIF1 | c.579C>A (p.Leu193=) c.639C>A (p.Leu213=) c.1026C>A (p.Leu342=) c.681C>A (p.Leu227=) c.648C>A (p.Leu216=) | |
| 18 | g.3457760C= | CA2281035666 | TGIF1 | c.579C= (p.Leu193=) c.639C= (p.Leu213=) c.1026C= (p.Leu342=) c.681C= (p.Leu227=) c.648C= (p.Leu216=) | |
| 18 | g.3457760C>G | CA502810455 | TGIF1 | c.579C>G (p.Leu193=) c.639C>G (p.Leu213=) c.1026C>G (p.Leu342=) c.681C>G (p.Leu227=) c.648C>G (p.Leu216=) | |
| 18 | g.3457760C>T | CA502810456 | TGIF1 | c.579C>T (p.Leu193=) c.639C>T (p.Leu213=) c.1026C>T (p.Leu342=) c.681C>T (p.Leu227=) c.648C>T (p.Leu216=) | dbSNP gnomAD v2 |
| 18 | g.3457761A= | CA2281035667 | TGIF1 | c.580A= (p.Met194=) c.640A= (p.Met214=) c.1027A= (p.Met343=) c.682A= (p.Met228=) c.649A= (p.Met217=) | |
| 18 | g.3457761A>C | CA401723932 | TGIF1 | c.580A>C (p.Met194Leu) c.640A>C (p.Met214Leu) c.1027A>C (p.Met343Leu) c.682A>C (p.Met228Leu) c.649A>C (p.Met217Leu) | gnomAD v4 |
| 18 | g.3457761A>G | CA401723934 | TGIF1 | c.580A>G (p.Met194Val) c.640A>G (p.Met214Val) c.1027A>G (p.Met343Val) c.682A>G (p.Met228Val) c.649A>G (p.Met217Val) | gnomAD v4 |
| 18 | g.3457761A>T | CA401723933 | TGIF1 | c.580A>T (p.Met194Leu) c.640A>T (p.Met214Leu) c.1027A>T (p.Met343Leu) c.682A>T (p.Met228Leu) c.649A>T (p.Met217Leu) | dbSNP |
| 18 | g.3457762T>A | CA401723935 | TGIF1 | c.581T>A (p.Met194Lys) c.641T>A (p.Met214Lys) c.1028T>A (p.Met343Lys) c.683T>A (p.Met228Lys) c.650T>A (p.Met217Lys) | |
| 18 | g.3457762T>C | CA295567376 | TGIF1 | c.581T>C (p.Met194Thr) c.641T>C (p.Met214Thr) c.1028T>C (p.Met343Thr) c.683T>C (p.Met228Thr) c.650T>C (p.Met217Thr) | dbSNP |
| 18 | g.3457762T>G | CA8876002 | TGIF1 | c.581T>G (p.Met194Arg) c.641T>G (p.Met214Arg) c.1028T>G (p.Met343Arg) c.683T>G (p.Met228Arg) c.650T>G (p.Met217Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457762T= | CA2281035668 | TGIF1 | c.581T= (p.Met194=) c.641T= (p.Met214=) c.1028T= (p.Met343=) c.683T= (p.Met228=) c.650T= (p.Met217=) | |
| 18 | g.3457763G>A | CA401723936 | TGIF1 | c.582G>A (p.Met194Ile) c.642G>A (p.Met214Ile) c.1029G>A (p.Met343Ile) c.684G>A (p.Met228Ile) c.651G>A (p.Met217Ile) | |
| 18 | g.3457763G>C | CA401723937 | TGIF1 | c.582G>C (p.Met194Ile) c.642G>C (p.Met214Ile) c.1029G>C (p.Met343Ile) c.684G>C (p.Met228Ile) c.651G>C (p.Met217Ile) | |
| 18 | g.3457763G>T | CA401723938 | TGIF1 | c.582G>T (p.Met194Ile) c.642G>T (p.Met214Ile) c.1029G>T (p.Met343Ile) c.684G>T (p.Met228Ile) c.651G>T (p.Met217Ile) | |
| 18 | g.3457764T>A | CA401723939 | TGIF1 | c.583T>A (p.Tyr195Asn) c.643T>A (p.Tyr215Asn) c.1030T>A (p.Tyr344Asn) c.685T>A (p.Tyr229Asn) c.652T>A (p.Tyr218Asn) | |
| 18 | g.3457764T>C | CA401723940 | TGIF1 | c.583T>C (p.Tyr195His) c.643T>C (p.Tyr215His) c.1030T>C (p.Tyr344His) c.685T>C (p.Tyr229His) c.652T>C (p.Tyr218His) | gnomAD v4 |
| 18 | g.3457764T>G | CA401723941 | TGIF1 | c.583T>G (p.Tyr195Asp) c.643T>G (p.Tyr215Asp) c.1030T>G (p.Tyr344Asp) c.685T>G (p.Tyr229Asp) c.652T>G (p.Tyr218Asp) | |
| 18 | g.3457765A>C | CA401723942 | TGIF1 | c.584A>C (p.Tyr195Ser) c.644A>C (p.Tyr215Ser) c.1031A>C (p.Tyr344Ser) c.686A>C (p.Tyr229Ser) c.653A>C (p.Tyr218Ser) | |
| 18 | g.3457765A>G | CA401723943 | TGIF1 | c.584A>G (p.Tyr195Cys) c.644A>G (p.Tyr215Cys) c.1031A>G (p.Tyr344Cys) c.686A>G (p.Tyr229Cys) c.653A>G (p.Tyr218Cys) | |
| 18 | g.3457765A>T | CA401723944 | TGIF1 | c.584A>T (p.Tyr195Phe) c.644A>T (p.Tyr215Phe) c.1031A>T (p.Tyr344Phe) c.686A>T (p.Tyr229Phe) c.653A>T (p.Tyr218Phe) | |
| 18 | g.3457766C>A | CA401723946 | TGIF1 | c.585C>A (p.Tyr195Ter) c.645C>A (p.Tyr215Ter) c.1032C>A (p.Tyr344Ter) c.687C>A (p.Tyr229Ter) c.654C>A (p.Tyr218Ter) | |
| 18 | g.3457766C= | CA2281035669 | TGIF1 | c.585C= (p.Tyr195=) c.645C= (p.Tyr215=) c.1032C= (p.Tyr344=) c.687C= (p.Tyr229=) c.654C= (p.Tyr218=) | |
| 18 | g.3457766C>G | CA401723945 | TGIF1 | c.585C>G (p.Tyr195Ter) c.645C>G (p.Tyr215Ter) c.1032C>G (p.Tyr344Ter) c.687C>G (p.Tyr229Ter) c.654C>G (p.Tyr218Ter) | |
| 18 | g.3457766C>T | CA502810460 | TGIF1 | c.585C>T (p.Tyr195=) c.645C>T (p.Tyr215=) c.1032C>T (p.Tyr344=) c.687C>T (p.Tyr229=) c.654C>T (p.Tyr218=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457767C>A | CA401723947 | TGIF1 | c.586C>A (p.Pro196Thr) c.646C>A (p.Pro216Thr) c.1033C>A (p.Pro345Thr) c.688C>A (p.Pro230Thr) c.655C>A (p.Pro219Thr) | |
| 18 | g.3457767C= | CA2281035670 | TGIF1 | c.586C= (p.Pro196=) c.646C= (p.Pro216=) c.1033C= (p.Pro345=) c.688C= (p.Pro230=) c.655C= (p.Pro219=) | |
| 18 | g.3457767C>G | CA401723948 | TGIF1 | c.586C>G (p.Pro196Ala) c.646C>G (p.Pro216Ala) c.1033C>G (p.Pro345Ala) c.688C>G (p.Pro230Ala) c.655C>G (p.Pro219Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457767C>T | CA401723949 | TGIF1 | c.586C>T (p.Pro196Ser) c.646C>T (p.Pro216Ser) c.1033C>T (p.Pro345Ser) c.688C>T (p.Pro230Ser) c.655C>T (p.Pro219Ser) | dbSNP |
| 18 | g.3457768C>A | CA401723950 | TGIF1 | c.587C>A (p.Pro196Gln) c.647C>A (p.Pro216Gln) c.1034C>A (p.Pro345Gln) c.689C>A (p.Pro230Gln) c.656C>A (p.Pro219Gln) | |
| 18 | g.3457768C>G | CA401723951 | TGIF1 | c.587C>G (p.Pro196Arg) c.647C>G (p.Pro216Arg) c.1034C>G (p.Pro345Arg) c.689C>G (p.Pro230Arg) c.656C>G (p.Pro219Arg) | |
| 18 | g.3457768C>T | CA401723952 | TGIF1 | c.587C>T (p.Pro196Leu) c.647C>T (p.Pro216Leu) c.1034C>T (p.Pro345Leu) c.689C>T (p.Pro230Leu) c.656C>T (p.Pro219Leu) | gnomAD v4 |
| 18 | g.3457769A= | CA2281035671 | TGIF1 | c.588A= (p.Pro196=) c.648A= (p.Pro216=) c.1035A= (p.Pro345=) c.690A= (p.Pro230=) c.657A= (p.Pro219=) | |
| 18 | g.3457769A>C | CA502810463 | TGIF1 | c.588A>C (p.Pro196=) c.648A>C (p.Pro216=) c.1035A>C (p.Pro345=) c.690A>C (p.Pro230=) c.657A>C (p.Pro219=) | |
| 18 | g.3457769A>G | CA502810464 | TGIF1 | c.588A>G (p.Pro196=) c.648A>G (p.Pro216=) c.1035A>G (p.Pro345=) c.690A>G (p.Pro230=) c.657A>G (p.Pro219=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457769A>T | CA502810465 | TGIF1 | c.588A>T (p.Pro196=) c.648A>T (p.Pro216=) c.1035A>T (p.Pro345=) c.690A>T (p.Pro230=) c.657A>T (p.Pro219=) | |
| 18 | g.3457770G>A | CA401723955 | TGIF1 | c.589G>A (p.Glu197Lys) c.649G>A (p.Glu217Lys) c.1036G>A (p.Glu346Lys) c.691G>A (p.Glu231Lys) c.658G>A (p.Glu220Lys) | |
| 18 | g.3457770G>C | CA401723954 | TGIF1 | c.589G>C (p.Glu197Gln) c.649G>C (p.Glu217Gln) c.1036G>C (p.Glu346Gln) c.691G>C (p.Glu231Gln) c.658G>C (p.Glu220Gln) | |
| 18 | g.3457770G>T | CA401723953 | TGIF1 | c.589G>T (p.Glu197Ter) c.649G>T (p.Glu217Ter) c.1036G>T (p.Glu346Ter) c.691G>T (p.Glu231Ter) c.658G>T (p.Glu220Ter) | |
| 18 | g.3457771A>C | CA401723956 | TGIF1 | c.590A>C (p.Glu197Ala) c.650A>C (p.Glu217Ala) c.1037A>C (p.Glu346Ala) c.692A>C (p.Glu231Ala) c.659A>C (p.Glu220Ala) | |
| 18 | g.3457771A>G | CA401723957 | TGIF1 | c.590A>G (p.Glu197Gly) c.650A>G (p.Glu217Gly) c.1037A>G (p.Glu346Gly) c.692A>G (p.Glu231Gly) c.659A>G (p.Glu220Gly) | |
| 18 | g.3457771A>T | CA401723958 | TGIF1 | c.590A>T (p.Glu197Val) c.650A>T (p.Glu217Val) c.1037A>T (p.Glu346Val) c.692A>T (p.Glu231Val) c.659A>T (p.Glu220Val) | |
| 18 | g.3457772G>A | CA8876003 | TGIF1 | c.591G>A (p.Glu197=) c.651G>A (p.Glu217=) c.1038G>A (p.Glu346=) c.693G>A (p.Glu231=) c.660G>A (p.Glu220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457772G>C | CA401723959 | TGIF1 | c.591G>C (p.Glu197Asp) c.651G>C (p.Glu217Asp) c.1038G>C (p.Glu346Asp) c.693G>C (p.Glu231Asp) c.660G>C (p.Glu220Asp) | |
| 18 | g.3457772G= | CA2281035672 | TGIF1 | c.591G= (p.Glu197=) c.651G= (p.Glu217=) c.1038G= (p.Glu346=) c.693G= (p.Glu231=) c.660G= (p.Glu220=) | |
| 18 | g.3457772G>T | CA401723960 | TGIF1 | c.591G>T (p.Glu197Asp) c.651G>T (p.Glu217Asp) c.1038G>T (p.Glu346Asp) c.693G>T (p.Glu231Asp) c.660G>T (p.Glu220Asp) | |
| 18 | g.3457773G>A | CA401723961 | TGIF1 | c.592G>A (p.Asp198Asn) c.652G>A (p.Asp218Asn) c.1039G>A (p.Asp347Asn) c.694G>A (p.Asp232Asn) c.661G>A (p.Asp221Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457773G>C | CA401723963 | TGIF1 | c.592G>C (p.Asp198His) c.652G>C (p.Asp218His) c.1039G>C (p.Asp347His) c.694G>C (p.Asp232His) c.661G>C (p.Asp221His) | |
| 18 | g.3457773G= | CA2281035673 | TGIF1 | c.592G= (p.Asp198=) c.652G= (p.Asp218=) c.1039G= (p.Asp347=) c.694G= (p.Asp232=) c.661G= (p.Asp221=) | |
| 18 | g.3457773G>T | CA401723962 | TGIF1 | c.592G>T (p.Asp198Tyr) c.652G>T (p.Asp218Tyr) c.1039G>T (p.Asp347Tyr) c.694G>T (p.Asp232Tyr) c.661G>T (p.Asp221Tyr) | |
| 18 | g.3457774A= | CA2281035674 | TGIF1 | c.593A= (p.Asp198=) c.653A= (p.Asp218=) c.1040A= (p.Asp347=) c.695A= (p.Asp232=) c.662A= (p.Asp221=) | |
| 18 | g.3457774A>C | CA401723964 | TGIF1 | c.593A>C (p.Asp198Ala) c.653A>C (p.Asp218Ala) c.1040A>C (p.Asp347Ala) c.695A>C (p.Asp232Ala) c.662A>C (p.Asp221Ala) | |
| 18 | g.3457774A>G | CA401723965 | TGIF1 | c.593A>G (p.Asp198Gly) c.653A>G (p.Asp218Gly) c.1040A>G (p.Asp347Gly) c.695A>G (p.Asp232Gly) c.662A>G (p.Asp221Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.3457774A>T | CA401723966 | TGIF1 | c.593A>T (p.Asp198Val) c.653A>T (p.Asp218Val) c.1040A>T (p.Asp347Val) c.695A>T (p.Asp232Val) c.662A>T (p.Asp221Val) | |
| 18 | g.3457775C>A | CA401723967 | TGIF1 | c.594C>A (p.Asp198Glu) c.654C>A (p.Asp218Glu) c.1041C>A (p.Asp347Glu) c.696C>A (p.Asp232Glu) c.663C>A (p.Asp221Glu) | |
| 18 | g.3457775C>G | CA401723968 | TGIF1 | c.594C>G (p.Asp198Glu) c.654C>G (p.Asp218Glu) c.1041C>G (p.Asp347Glu) c.696C>G (p.Asp232Glu) c.663C>G (p.Asp221Glu) | |
| 18 | g.3457775C>T | CA502810468 | TGIF1 | c.594C>T (p.Asp198=) c.654C>T (p.Asp218=) c.1041C>T (p.Asp347=) c.696C>T (p.Asp232=) c.663C>T (p.Asp221=) | gnomAD v4 |
| 18 | g.3457776A>C | CA401723969 | TGIF1 | c.595A>C (p.Thr199Pro) c.655A>C (p.Thr219Pro) c.1042A>C (p.Thr348Pro) c.697A>C (p.Thr233Pro) c.664A>C (p.Thr222Pro) | |
| 18 | g.3457776A>G | CA401723970 | TGIF1 | c.595A>G (p.Thr199Ala) c.655A>G (p.Thr219Ala) c.1042A>G (p.Thr348Ala) c.697A>G (p.Thr233Ala) c.664A>G (p.Thr222Ala) | |
| 18 | g.3457776A>T | CA401723971 | TGIF1 | c.595A>T (p.Thr199Ser) c.655A>T (p.Thr219Ser) c.1042A>T (p.Thr348Ser) c.697A>T (p.Thr233Ser) c.664A>T (p.Thr222Ser) | |
| 18 | g.3457777C>A | CA401723972 | TGIF1 | c.596C>A (p.Thr199Asn) c.656C>A (p.Thr219Asn) c.1043C>A (p.Thr348Asn) c.698C>A (p.Thr233Asn) c.665C>A (p.Thr222Asn) | |
| 18 | g.3457777C>G | CA401723973 | TGIF1 | c.596C>G (p.Thr199Ser) c.656C>G (p.Thr219Ser) c.1043C>G (p.Thr348Ser) c.698C>G (p.Thr233Ser) c.665C>G (p.Thr222Ser) | |
| 18 | g.3457777C>T | CA401723974 | TGIF1 | c.596C>T (p.Thr199Ile) c.656C>T (p.Thr219Ile) c.1043C>T (p.Thr348Ile) c.698C>T (p.Thr233Ile) c.665C>T (p.Thr222Ile) | gnomAD v4 |
| 18 | g.3457778T>A | CA502810470 | TGIF1 | c.597T>A (p.Thr199=) c.657T>A (p.Thr219=) c.1044T>A (p.Thr348=) c.699T>A (p.Thr233=) c.666T>A (p.Thr222=) | |
| 18 | g.3457778T>C | CA502810471 | TGIF1 | c.597T>C (p.Thr199=) c.657T>C (p.Thr219=) c.1044T>C (p.Thr348=) c.699T>C (p.Thr233=) c.666T>C (p.Thr222=) | dbSNP |
| 18 | g.3457778T>G | CA8876004 | TGIF1 | c.597T>G (p.Thr199=) c.657T>G (p.Thr219=) c.1044T>G (p.Thr348=) c.699T>G (p.Thr233=) c.666T>G (p.Thr222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457778T= | CA2281035675 | TGIF1 | c.597T= (p.Thr199=) c.657T= (p.Thr219=) c.1044T= (p.Thr348=) c.699T= (p.Thr233=) c.666T= (p.Thr222=) | |
| 18 | g.3457779T>A | CA401723977 | TGIF1 | c.598T>A (p.Cys200Ser) c.658T>A (p.Cys220Ser) c.1045T>A (p.Cys349Ser) c.700T>A (p.Cys234Ser) c.667T>A (p.Cys223Ser) | |
| 18 | g.3457779T>C | CA401723975 | TGIF1 | c.598T>C (p.Cys200Arg) c.658T>C (p.Cys220Arg) c.1045T>C (p.Cys349Arg) c.700T>C (p.Cys234Arg) c.667T>C (p.Cys223Arg) | |
| 18 | g.3457779T>G | CA401723976 | TGIF1 | c.598T>G (p.Cys200Gly) c.658T>G (p.Cys220Gly) c.1045T>G (p.Cys349Gly) c.700T>G (p.Cys234Gly) c.667T>G (p.Cys223Gly) | |
| 18 | g.3457780G>A | CA401723978 | TGIF1 | c.599G>A (p.Cys200Tyr) c.659G>A (p.Cys220Tyr) c.1046G>A (p.Cys349Tyr) c.701G>A (p.Cys234Tyr) c.668G>A (p.Cys223Tyr) | |
| 18 | g.3457780G>C | CA401723979 | TGIF1 | c.599G>C (p.Cys200Ser) c.659G>C (p.Cys220Ser) c.1046G>C (p.Cys349Ser) c.701G>C (p.Cys234Ser) c.668G>C (p.Cys223Ser) | gnomAD v4 |
| 18 | g.3457780G>T | CA401723980 | TGIF1 | c.599G>T (p.Cys200Phe) c.659G>T (p.Cys220Phe) c.1046G>T (p.Cys349Phe) c.701G>T (p.Cys234Phe) c.668G>T (p.Cys223Phe) | |
| 18 | g.3457781T>A | CA401723981 | TGIF1 | c.600T>A (p.Cys200Ter) c.660T>A (p.Cys220Ter) c.1047T>A (p.Cys349Ter) c.702T>A (p.Cys234Ter) c.669T>A (p.Cys223Ter) | |
| 18 | g.3457781T>C | CA502810472 | TGIF1 | c.600T>C (p.Cys200=) c.660T>C (p.Cys220=) c.1047T>C (p.Cys349=) c.702T>C (p.Cys234=) c.669T>C (p.Cys223=) | |
| 18 | g.3457781T>G | CA401723982 | TGIF1 | c.600T>G (p.Cys200Trp) c.660T>G (p.Cys220Trp) c.1047T>G (p.Cys349Trp) c.702T>G (p.Cys234Trp) c.669T>G (p.Cys223Trp) | |
| 18 | g.3457782A>C | CA401723983 | TGIF1 | c.601A>C (p.Lys201Gln) c.661A>C (p.Lys221Gln) c.1048A>C (p.Lys350Gln) c.703A>C (p.Lys235Gln) c.670A>C (p.Lys224Gln) | |
| 18 | g.3457782A>G | CA401723984 | TGIF1 | c.601A>G (p.Lys201Glu) c.661A>G (p.Lys221Glu) c.1048A>G (p.Lys350Glu) c.703A>G (p.Lys235Glu) c.670A>G (p.Lys224Glu) | |
| 18 | g.3457782A>T | CA401723985 | TGIF1 | c.601A>T (p.Lys201Ter) c.661A>T (p.Lys221Ter) c.1048A>T (p.Lys350Ter) c.703A>T (p.Lys235Ter) c.670A>T (p.Lys224Ter) | |
| 18 | g.3457783A>C | CA401723986 | TGIF1 | c.602A>C (p.Lys201Thr) c.662A>C (p.Lys221Thr) c.1049A>C (p.Lys350Thr) c.704A>C (p.Lys235Thr) c.671A>C (p.Lys224Thr) | |
| 18 | g.3457783A>G | CA401723987 | TGIF1 | c.602A>G (p.Lys201Arg) c.662A>G (p.Lys221Arg) c.1049A>G (p.Lys350Arg) c.704A>G (p.Lys235Arg) c.671A>G (p.Lys224Arg) | |
| 18 | g.3457783A>T | CA401723988 | TGIF1 | c.602A>T (p.Lys201Ile) c.662A>T (p.Lys221Ile) c.1049A>T (p.Lys350Ile) c.704A>T (p.Lys235Ile) c.671A>T (p.Lys224Ile) | |
| 18 | g.3457784A>C | CA401723989 | TGIF1 | c.603A>C (p.Lys201Asn) c.663A>C (p.Lys221Asn) c.1050A>C (p.Lys350Asn) c.705A>C (p.Lys235Asn) c.672A>C (p.Lys224Asn) | |
| 18 | g.3457784A>G | CA502810476 | TGIF1 | c.603A>G (p.Lys201=) c.663A>G (p.Lys221=) c.1050A>G (p.Lys350=) c.705A>G (p.Lys235=) c.672A>G (p.Lys224=) | |
| 18 | g.3457784A>T | CA401723990 | TGIF1 | c.603A>T (p.Lys201Asn) c.663A>T (p.Lys221Asn) c.1050A>T (p.Lys350Asn) c.705A>T (p.Lys235Asn) c.672A>T (p.Lys224Asn) | |
| 18 | g.3457785T>A | CA401723993 | TGIF1 | c.604T>A (p.Ser202Thr) c.664T>A (p.Ser222Thr) c.1051T>A (p.Ser351Thr) c.706T>A (p.Ser236Thr) c.673T>A (p.Ser225Thr) | |
| 18 | g.3457785T>C | CA401723991 | TGIF1 | c.604T>C (p.Ser202Pro) c.664T>C (p.Ser222Pro) c.1051T>C (p.Ser351Pro) c.706T>C (p.Ser236Pro) c.673T>C (p.Ser225Pro) | |
| 18 | g.3457785T>G | CA401723992 | TGIF1 | c.604T>G (p.Ser202Ala) c.664T>G (p.Ser222Ala) c.1051T>G (p.Ser351Ala) c.706T>G (p.Ser236Ala) c.673T>G (p.Ser225Ala) | |
| 18 | g.3457786_3457787dup | CA645599957 | TGIF1 | c.605_606dup (p.Gly203LeufsTer?) c.665_666dup (p.Gly223LeufsTer?) c.1052_1053dup (p.Gly352LeufsTer?) c.707_708dup (p.Gly237LeufsTer?) c.674_675dup (p.Gly226LeufsTer?) | COSMIC COSMIC |
| 18 | g.3457786C>A | CA401723994 | TGIF1 | c.605C>A (p.Ser202Tyr) c.665C>A (p.Ser222Tyr) c.1052C>A (p.Ser351Tyr) c.707C>A (p.Ser236Tyr) c.674C>A (p.Ser225Tyr) | |
| 18 | g.3457786C>G | CA401723995 | TGIF1 | c.605C>G (p.Ser202Cys) c.665C>G (p.Ser222Cys) c.1052C>G (p.Ser351Cys) c.707C>G (p.Ser236Cys) c.674C>G (p.Ser225Cys) | |
| 18 | g.3457786C>T | CA401723996 | TGIF1 | c.605C>T (p.Ser202Phe) c.665C>T (p.Ser222Phe) c.1052C>T (p.Ser351Phe) c.707C>T (p.Ser236Phe) c.674C>T (p.Ser225Phe) | |
| 18 | g.3457787T>A | CA502810481 | TGIF1 | c.606T>A (p.Ser202=) c.666T>A (p.Ser222=) c.1053T>A (p.Ser351=) c.708T>A (p.Ser236=) c.675T>A (p.Ser225=) | |
| 18 | g.3457787T>C | CA502810482 | TGIF1 | c.606T>C (p.Ser202=) c.666T>C (p.Ser222=) c.1053T>C (p.Ser351=) c.708T>C (p.Ser236=) c.675T>C (p.Ser225=) | |
| 18 | g.3457787T>G | CA502810483 | TGIF1 | c.606T>G (p.Ser202=) c.666T>G (p.Ser222=) c.1053T>G (p.Ser351=) c.708T>G (p.Ser236=) c.675T>G (p.Ser225=) | |
| 18 | g.3457788G>A | CA401723997 | TGIF1 | c.607G>A (p.Gly203Arg) c.667G>A (p.Gly223Arg) c.1054G>A (p.Gly352Arg) c.709G>A (p.Gly237Arg) c.676G>A (p.Gly226Arg) | |
| 18 | g.3457788G>C | CA401723998 | TGIF1 | c.607G>C (p.Gly203Arg) c.667G>C (p.Gly223Arg) c.1054G>C (p.Gly352Arg) c.709G>C (p.Gly237Arg) c.676G>C (p.Gly226Arg) | |
| 18 | g.3457788G>T | CA401723999 | TGIF1 | c.607G>T (p.Gly203Ter) c.667G>T (p.Gly223Ter) c.1054G>T (p.Gly352Ter) c.709G>T (p.Gly237Ter) c.676G>T (p.Gly226Ter) | |
| 18 | g.3457789G>A | CA401724000 | TGIF1 | c.608G>A (p.Gly203Glu) c.668G>A (p.Gly223Glu) c.1055G>A (p.Gly352Glu) c.710G>A (p.Gly237Glu) c.677G>A (p.Gly226Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.3457789G>C | CA401724001 | TGIF1 | c.608G>C (p.Gly203Ala) c.668G>C (p.Gly223Ala) c.1055G>C (p.Gly352Ala) c.710G>C (p.Gly237Ala) c.677G>C (p.Gly226Ala) | |
| 18 | g.3457789G= | CA2281035676 | TGIF1 | c.608G= (p.Gly203=) c.668G= (p.Gly223=) c.1055G= (p.Gly352=) c.710G= (p.Gly237=) c.677G= (p.Gly226=) | |
| 18 | g.3457789G>T | CA401724002 | TGIF1 | c.608G>T (p.Gly203Val) c.668G>T (p.Gly223Val) c.1055G>T (p.Gly352Val) c.710G>T (p.Gly237Val) c.677G>T (p.Gly226Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457790A>C | CA502810486 | TGIF1 | c.609A>C (p.Gly203=) c.669A>C (p.Gly223=) c.1056A>C (p.Gly352=) c.711A>C (p.Gly237=) c.678A>C (p.Gly226=) | |
| 18 | g.3457790A>G | CA502810487 | TGIF1 | c.609A>G (p.Gly203=) c.669A>G (p.Gly223=) c.1056A>G (p.Gly352=) c.711A>G (p.Gly237=) c.678A>G (p.Gly226=) | |
| 18 | g.3457790A>T | CA502810488 | TGIF1 | c.609A>T (p.Gly203=) c.669A>T (p.Gly223=) c.1056A>T (p.Gly352=) c.711A>T (p.Gly237=) c.678A>T (p.Gly226=) | |
| 18 | g.3457791C>A | CA401724003 | TGIF1 | c.610C>A (p.Pro204Thr) c.670C>A (p.Pro224Thr) c.1057C>A (p.Pro353Thr) c.712C>A (p.Pro238Thr) c.679C>A (p.Pro227Thr) | |
| 18 | g.3457791C>G | CA401724004 | TGIF1 | c.610C>G (p.Pro204Ala) c.670C>G (p.Pro224Ala) c.1057C>G (p.Pro353Ala) c.712C>G (p.Pro238Ala) c.679C>G (p.Pro227Ala) | |
| 18 | g.3457791C>T | CA401724005 | TGIF1 | c.610C>T (p.Pro204Ser) c.670C>T (p.Pro224Ser) c.1057C>T (p.Pro353Ser) c.712C>T (p.Pro238Ser) c.679C>T (p.Pro227Ser) | |
| 18 | g.3457792C>A | CA401724006 | TGIF1 | c.611C>A (p.Pro204Gln) c.671C>A (p.Pro224Gln) c.1058C>A (p.Pro353Gln) c.713C>A (p.Pro238Gln) c.680C>A (p.Pro227Gln) | |
| 18 | g.3457792C>G | CA401724008 | TGIF1 | c.611C>G (p.Pro204Arg) c.671C>G (p.Pro224Arg) c.1058C>G (p.Pro353Arg) c.713C>G (p.Pro238Arg) c.680C>G (p.Pro227Arg) | |
| 18 | g.3457792C>T | CA401724007 | TGIF1 | c.611C>T (p.Pro204Leu) c.671C>T (p.Pro224Leu) c.1058C>T (p.Pro353Leu) c.713C>T (p.Pro238Leu) c.680C>T (p.Pro227Leu) | |
| 18 | g.3457793A= | CA2281035677 | TGIF1 | c.612A= (p.Pro204=) c.672A= (p.Pro224=) c.1059A= (p.Pro353=) c.714A= (p.Pro238=) c.681A= (p.Pro227=) | |
| 18 | g.3457793A>C | CA502810489 | TGIF1 | c.612A>C (p.Pro204=) c.672A>C (p.Pro224=) c.1059A>C (p.Pro353=) c.714A>C (p.Pro238=) c.681A>C (p.Pro227=) | dbSNP COSMIC COSMIC |
| 18 | g.3457793A>G | CA502810490 | TGIF1 | c.612A>G (p.Pro204=) c.672A>G (p.Pro224=) c.1059A>G (p.Pro353=) c.714A>G (p.Pro238=) c.681A>G (p.Pro227=) | |
| 18 | g.3457793A>T | CA502810491 | TGIF1 | c.612A>T (p.Pro204=) c.672A>T (p.Pro224=) c.1059A>T (p.Pro353=) c.714A>T (p.Pro238=) c.681A>T (p.Pro227=) | |
| 18 | g.3457794A>C | CA401724009 | TGIF1 | c.613A>C (p.Ser205Arg) c.673A>C (p.Ser225Arg) c.1060A>C (p.Ser354Arg) c.715A>C (p.Ser239Arg) c.682A>C (p.Ser228Arg) | |
| 18 | g.3457794A>G | CA401724011 | TGIF1 | c.613A>G (p.Ser205Gly) c.673A>G (p.Ser225Gly) c.1060A>G (p.Ser354Gly) c.715A>G (p.Ser239Gly) c.682A>G (p.Ser228Gly) | |
| 18 | g.3457794A>T | CA401724010 | TGIF1 | c.613A>T (p.Ser205Cys) c.673A>T (p.Ser225Cys) c.1060A>T (p.Ser354Cys) c.715A>T (p.Ser239Cys) c.682A>T (p.Ser228Cys) | |
| 18 | g.3457795G>A | CA8876005 | TGIF1 | c.614G>A (p.Ser205Asn) c.674G>A (p.Ser225Asn) c.1061G>A (p.Ser354Asn) c.716G>A (p.Ser239Asn) c.683G>A (p.Ser228Asn) | dbSNP ExAC |
| 18 | g.3457795G>C | CA401724012 | TGIF1 | c.614G>C (p.Ser205Thr) c.674G>C (p.Ser225Thr) c.1061G>C (p.Ser354Thr) c.716G>C (p.Ser239Thr) c.683G>C (p.Ser228Thr) | |
| 18 | g.3457795G= | CA2281035678 | TGIF1 | c.614G= (p.Ser205=) c.674G= (p.Ser225=) c.1061G= (p.Ser354=) c.716G= (p.Ser239=) c.683G= (p.Ser228=) | |
| 18 | g.3457795G>T | CA401724013 | TGIF1 | c.614G>T (p.Ser205Ile) c.674G>T (p.Ser225Ile) c.1061G>T (p.Ser354Ile) c.716G>T (p.Ser239Ile) c.683G>T (p.Ser228Ile) | gnomAD v4 |
| 18 | g.3457796T>A | CA401724014 | TGIF1 | c.615T>A (p.Ser205Arg) c.675T>A (p.Ser225Arg) c.1062T>A (p.Ser354Arg) c.717T>A (p.Ser239Arg) c.684T>A (p.Ser228Arg) | |
| 18 | g.3457796T>C | CA502810498 | TGIF1 | c.615T>C (p.Ser205=) c.675T>C (p.Ser225=) c.1062T>C (p.Ser354=) c.717T>C (p.Ser239=) c.684T>C (p.Ser228=) | |
| 18 | g.3457796T>G | CA8876006 | TGIF1 | c.615T>G (p.Ser205Arg) c.675T>G (p.Ser225Arg) c.1062T>G (p.Ser354Arg) c.717T>G (p.Ser239Arg) c.684T>G (p.Ser228Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457796T= | CA2281035679 | TGIF1 | c.615T= (p.Ser205=) c.675T= (p.Ser225=) c.1062T= (p.Ser354=) c.717T= (p.Ser239=) c.684T= (p.Ser228=) | |
| 18 | g.3457797A= | CA2281035680 | TGIF1 | c.616A= (p.Thr206=) c.676A= (p.Thr226=) c.1063A= (p.Thr355=) c.718A= (p.Thr240=) c.685A= (p.Thr229=) | |
| 18 | g.3457797A>C | CA401724015 | TGIF1 | c.616A>C (p.Thr206Pro) c.676A>C (p.Thr226Pro) c.1063A>C (p.Thr355Pro) c.718A>C (p.Thr240Pro) c.685A>C (p.Thr229Pro) | dbSNP |
| 18 | g.3457797A>G | CA401724016 | TGIF1 | c.616A>G (p.Thr206Ala) c.676A>G (p.Thr226Ala) c.1063A>G (p.Thr355Ala) c.718A>G (p.Thr240Ala) c.685A>G (p.Thr229Ala) | COSMIC COSMIC |
| 18 | g.3457797A>T | CA401724017 | TGIF1 | c.616A>T (p.Thr206Ser) c.676A>T (p.Thr226Ser) c.1063A>T (p.Thr355Ser) c.718A>T (p.Thr240Ser) c.685A>T (p.Thr229Ser) | |
| 18 | g.3457798C>A | CA401724018 | TGIF1 | c.617C>A (p.Thr206Lys) c.677C>A (p.Thr226Lys) c.1064C>A (p.Thr355Lys) c.719C>A (p.Thr240Lys) c.686C>A (p.Thr229Lys) | |
| 18 | g.3457798C= | CA2281035681 | TGIF1 | c.617C= (p.Thr206=) c.677C= (p.Thr226=) c.1064C= (p.Thr355=) c.719C= (p.Thr240=) c.686C= (p.Thr229=) | |
| 18 | g.3457798C>G | CA401724019 | TGIF1 | c.617C>G (p.Thr206Arg) c.677C>G (p.Thr226Arg) c.1064C>G (p.Thr355Arg) c.719C>G (p.Thr240Arg) c.686C>G (p.Thr229Arg) | |
| 18 | g.3457798C>T | CA295567394 | TGIF1 | c.617C>T (p.Thr206Met) c.677C>T (p.Thr226Met) c.1064C>T (p.Thr355Met) c.719C>T (p.Thr240Met) c.686C>T (p.Thr229Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457799G>A | CA8876007 | TGIF1 | c.618G>A (p.Thr206=) c.678G>A (p.Thr226=) c.1065G>A (p.Thr355=) c.720G>A (p.Thr240=) c.687G>A (p.Thr229=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457799G>C | CA295567398 | TGIF1 | c.618G>C (p.Thr206=) c.678G>C (p.Thr226=) c.1065G>C (p.Thr355=) c.720G>C (p.Thr240=) c.687G>C (p.Thr229=) | dbSNP gnomAD v4 |
| 18 | g.3457799G= | CA2281035682 | TGIF1 | c.618G= (p.Thr206=) c.678G= (p.Thr226=) c.1065G= (p.Thr355=) c.720G= (p.Thr240=) c.687G= (p.Thr229=) | |
| 18 | g.3457799G>T | CA502810500 | TGIF1 | c.618G>T (p.Thr206=) c.678G>T (p.Thr226=) c.1065G>T (p.Thr355=) c.720G>T (p.Thr240=) c.687G>T (p.Thr229=) | dbSNP gnomAD v4 |
| 18 | g.3457800A>C | CA401724022 | TGIF1 | c.619A>C (p.Asn207His) c.679A>C (p.Asn227His) c.1066A>C (p.Asn356His) c.721A>C (p.Asn241His) c.688A>C (p.Asn230His) | |
| 18 | g.3457800A>G | CA401724020 | TGIF1 | c.619A>G (p.Asn207Asp) c.679A>G (p.Asn227Asp) c.1066A>G (p.Asn356Asp) c.721A>G (p.Asn241Asp) c.688A>G (p.Asn230Asp) | |
| 18 | g.3457800A>T | CA401724021 | TGIF1 | c.619A>T (p.Asn207Tyr) c.679A>T (p.Asn227Tyr) c.1066A>T (p.Asn356Tyr) c.721A>T (p.Asn241Tyr) c.688A>T (p.Asn230Tyr) | |
| 18 | g.3457801A= | CA2281035683 | TGIF1 | c.620A= (p.Asn207=) c.680A= (p.Asn227=) c.1067A= (p.Asn356=) c.722A= (p.Asn241=) c.689A= (p.Asn230=) | |
| 18 | g.3457801A>C | CA401724023 | TGIF1 | c.620A>C (p.Asn207Thr) c.680A>C (p.Asn227Thr) c.1067A>C (p.Asn356Thr) c.722A>C (p.Asn241Thr) c.689A>C (p.Asn230Thr) | |
| 18 | g.3457801A>G | CA401724024 | TGIF1 | c.620A>G (p.Asn207Ser) c.680A>G (p.Asn227Ser) c.1067A>G (p.Asn356Ser) c.722A>G (p.Asn241Ser) c.689A>G (p.Asn230Ser) | dbSNP gnomAD v4 |
| 18 | g.3457801A>T | CA401724025 | TGIF1 | c.620A>T (p.Asn207Ile) c.680A>T (p.Asn227Ile) c.1067A>T (p.Asn356Ile) c.722A>T (p.Asn241Ile) c.689A>T (p.Asn230Ile) | |
| 18 | g.3457802T>A | CA401724026 | TGIF1 | c.621T>A (p.Asn207Lys) c.681T>A (p.Asn227Lys) c.1068T>A (p.Asn356Lys) c.723T>A (p.Asn241Lys) c.690T>A (p.Asn230Lys) | |
| 18 | g.3457802T>C | CA502810501 | TGIF1 | c.621T>C (p.Asn207=) c.681T>C (p.Asn227=) c.1068T>C (p.Asn356=) c.723T>C (p.Asn241=) c.690T>C (p.Asn230=) | dbSNP |
| 18 | g.3457802T>G | CA401724027 | TGIF1 | c.621T>G (p.Asn207Lys) c.681T>G (p.Asn227Lys) c.1068T>G (p.Asn356Lys) c.723T>G (p.Asn241Lys) c.690T>G (p.Asn230Lys) | |
| 18 | g.3457802T= | CA2281035684 | TGIF1 | c.621T= (p.Asn207=) c.681T= (p.Asn227=) c.1068T= (p.Asn356=) c.723T= (p.Asn241=) c.690T= (p.Asn230=) | |
| 18 | g.3457803A= | CA2281035685 | TGIF1 | c.622A= (p.Thr208=) c.682A= (p.Thr228=) c.1069A= (p.Thr357=) c.724A= (p.Thr242=) c.691A= (p.Thr231=) | |
| 18 | g.3457803A>C | CA401724028 | TGIF1 | c.622A>C (p.Thr208Pro) c.682A>C (p.Thr228Pro) c.1069A>C (p.Thr357Pro) c.724A>C (p.Thr242Pro) c.691A>C (p.Thr231Pro) | dbSNP |
| 18 | g.3457803A>G | CA401724029 | TGIF1 | c.622A>G (p.Thr208Ala) c.682A>G (p.Thr228Ala) c.1069A>G (p.Thr357Ala) c.724A>G (p.Thr242Ala) c.691A>G (p.Thr231Ala) | |
| 18 | g.3457803A>T | CA401724030 | TGIF1 | c.622A>T (p.Thr208Ser) c.682A>T (p.Thr228Ser) c.1069A>T (p.Thr357Ser) c.724A>T (p.Thr242Ser) c.691A>T (p.Thr231Ser) | |
| 18 | g.3457806_3457807del | CA645599958 | TGIF1 | c.625_626del (p.Gln209GlufsTer?) c.685_686del (p.Gln229GlufsTer?) c.1072_1073del (p.Gln358GlufsTer?) c.727_728del (p.Gln243GlufsTer?) c.694_695del (p.Gln232GlufsTer?) | gnomAD v4 COSMIC |
| 18 | g.3457804C>A | CA401724031 | TGIF1 | c.623C>A (p.Thr208Lys) c.683C>A (p.Thr228Lys) c.1070C>A (p.Thr357Lys) c.725C>A (p.Thr242Lys) c.692C>A (p.Thr231Lys) | |
| 18 | g.3457804C= | CA2281035686 | TGIF1 | c.623C= (p.Thr208=) c.683C= (p.Thr228=) c.1070C= (p.Thr357=) c.725C= (p.Thr242=) c.692C= (p.Thr231=) | |
| 18 | g.3457804C>G | CA401724032 | TGIF1 | c.623C>G (p.Thr208Arg) c.683C>G (p.Thr228Arg) c.1070C>G (p.Thr357Arg) c.725C>G (p.Thr242Arg) c.692C>G (p.Thr231Arg) | |
| 18 | g.3457804C>T | CA8876008 | TGIF1 | c.623C>T (p.Thr208Ile) c.683C>T (p.Thr228Ile) c.1070C>T (p.Thr357Ile) c.725C>T (p.Thr242Ile) c.692C>T (p.Thr231Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.3457805A= | CA2281035687 | TGIF1 | c.624A= (p.Thr208=) c.684A= (p.Thr228=) c.1071A= (p.Thr357=) c.726A= (p.Thr242=) c.693A= (p.Thr231=) | |
| 18 | g.3457805A>C | CA502810505 | TGIF1 | c.624A>C (p.Thr208=) c.684A>C (p.Thr228=) c.1071A>C (p.Thr357=) c.726A>C (p.Thr242=) c.693A>C (p.Thr231=) | |
| 18 | g.3457805A>G | CA502810506 | TGIF1 | c.624A>G (p.Thr208=) c.684A>G (p.Thr228=) c.1071A>G (p.Thr357=) c.726A>G (p.Thr242=) c.693A>G (p.Thr231=) | |
| 18 | g.3457805A>T | CA502810507 | TGIF1 | c.624A>T (p.Thr208=) c.684A>T (p.Thr228=) c.1071A>T (p.Thr357=) c.726A>T (p.Thr242=) c.693A>T (p.Thr231=) | dbSNP |
| 18 | g.3457806C>A | CA401724033 | TGIF1 | c.625C>A (p.Gln209Lys) c.685C>A (p.Gln229Lys) c.1072C>A (p.Gln358Lys) c.727C>A (p.Gln243Lys) c.694C>A (p.Gln232Lys) | |
| 18 | g.3457806C= | CA2281035688 | TGIF1 | c.625C= (p.Gln209=) c.685C= (p.Gln229=) c.1072C= (p.Gln358=) c.727C= (p.Gln243=) c.694C= (p.Gln232=) | |
| 18 | g.3457806C>G | CA8876009 | TGIF1 | c.625C>G (p.Gln209Glu) c.685C>G (p.Gln229Glu) c.1072C>G (p.Gln358Glu) c.727C>G (p.Gln243Glu) c.694C>G (p.Gln232Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.3457806C>T | CA401724034 | TGIF1 | c.625C>T (p.Gln209Ter) c.685C>T (p.Gln229Ter) c.1072C>T (p.Gln358Ter) c.727C>T (p.Gln243Ter) c.694C>T (p.Gln232Ter) |